NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 15, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)]

NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)

ATP1A3:ATPase Na+/K+ transporting subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
  • NC_000019.10:g.41970275C>T
  • NG_008015.1:g.28956G>A
  • NM_001256213.2:c.2485G>A
  • NM_001256214.2:c.2491G>A
  • NM_152296.5:c.2452G>AMANE SELECT
  • NP_001243142.1:p.Glu829Lys
  • NP_001243143.1:p.Glu831Lys
  • NP_689509.1:p.Glu818Lys
  • NP_689509.1:p.Glu818Lys
  • LRG_1186t1:c.2452G>A
  • LRG_1186:g.28956G>A
  • LRG_1186p1:p.Glu818Lys
  • NC_000019.9:g.42474427C>T
  • NM_001256214.1:c.2491G>A
  • NM_152296.3:c.2452G>A
  • NM_152296.4:c.2452G>A
  • P13637:p.Glu818Lys
Protein change:
E818K; GLU818LYS
UniProtKB: P13637#VAR_070772; OMIM: 182350.0014; dbSNP: rs587777771
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001256213.2:c.2485G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256214.2:c.2491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152296.5:c.2452G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000329953GeneDxcriteria provided, single submitter
(Dec 15, 2020)
germlineclinical testing

Citation Link,

SCV001247063CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
(Mar 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000329953.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


Published functional studies demonstrate a damaging effect with reduced pump turnover rate and failure to rapidly regain the resting membrane potential following action potentials (Roenn et al., 2019); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28483396, 24431296, 24468074, 20301294, 25056583, 26410222, 26400718, 26453127, 25895915, 27091223, 26795593, 29090527, 29184165, 28708278, 29305691, 29625811, 30409907, 29397530, 29915382, 30904181, 31410291, 31737037, 31942761, 32907636, 32135597, 32576493)

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247063.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Dec 4, 2021

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